Educación personalizada a través de la Web mediante la utilización de estámdares educativos y tecnologías de la Web Semántica

Para conseguir la personalización de la enseñanza asistida por computador o e-learning es necesario la división de los cursos en Objetos Educativos. Dichos Objetos Educativos deberán estar lo suficientemente documentados con metadatos para poder almacenarlos y gestionarlos en repositorios. Dichos metadatos deberán seguir unos estándares para que pueda ser entendido por cualquier sistema. En este proyecto se propone un estudio de dichos esquemas y una herramienta, MetaRDF. MetaRDF es una herramienta para la creación y edición de metadatos. Los esquemas utilizados en dicha herramienta son DC (Dublín Core), LOM (Learning Object Model) y LOMe (esquema basado en LOM propuesto en este proyecto para e-Aula). La clasificación descriptiva ofrecida por los estándares de metadatos se cumplimenta mediante taxonomías, que aportan significado a los contenidos, iniciando el camino hacia la web semántica. [ABSTRACT] To achieve the e-learning personalization the courses are required to be divide into Learning Objects. These Learning Objects have to be documented enough with metadata so it is possible to store and manage them in repositories. This metadata will have to follow some standards so any system can understand them. In this proyect, a study of these standards and a tool, Meta RDF, are proposed. MetaRDF is a tool for metadata creation and edition. The standard used in this tool are DC (Dublin Core), LOM (Learning Object Model) and LOMe ( and adaptation for e-Aula based in LOM). The descriptive classification offered by the metadata standards are cumplimented by the taxonomies, which give meaning to the content, starting the way that goes to the semantic Web

The c.859G>C variant in the SMN2 gene is associated with both type II and III SMA and originates from a common ancestor

International audienceHomozygous mutations of the telomeric SMN1 gene lead to degeneration of motor neurons causing spinal muscular atrophy (SMA).1 A highly similar centromeric gene (SMN2) can only partially compensate for SMN1 deficiency. The c.859G>C variant in SMN2, has been recently reported as a positive disease modifier.2,3 We identified the variant in 10 unrelated chronic SMA patients with a wide spectrum of phenotypes ranging from type II patients who can only sit to adult walkers. Haplotye analysis strongly suggests that the variant originated from a common ancestor. Our results confirm that the c.859G>C variant is a milder SMN2 allele and predict a direct correlation between SMN activity and phenotypic severity